Showing results 1 to 6 of 6
| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
The KLHL40C.1516A>C is a Chinese-specific founder mutation in causing nemaline myopathy 8 Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, &
Hong Kong College of Paediatric Nursing | 2019 | 36 | ||
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes Journal:Molecular Genetics & Genomic Medicine | 2020 | 49 | ||
| 2020 | 25 | |||
Congenital myopathies: characteristic and subtypes in Hong Kong Proceeding/Conference:Neuromuscular Disorders | 2015 | 45 | ||
Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations Proceeding/Conference:International Child Neurology Congress. Mumbai, India. 2018 | 2019 | 32 | ||
Anti-N-methyl-d-aspartate receptor encephalitis in children: Incidence and experience in Hong Kong Journal:Brain & Development | 2018 | 47 |